Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.A1059T
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RTEL1

NM_001283009.2:p.A1059T

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

Association analysis of RTEL1 variants with risk of adult gliomas in a Korean population.

Namgoong S et al.

Plos One, 2018

Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.

Liu Y et al.

Genetics and Molecular Biology, 0

28590501 (PubMed )
Supplement: 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
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